scholarly journals Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

2016 ◽  
Vol 23 (12) ◽  
pp. 899-908 ◽  
Author(s):  
Roland Därr ◽  
Joan Nambuba ◽  
Jaydira Del Rivero ◽  
Ingo Janssen ◽  
Maria Merino ◽  
...  
Keyword(s):  
Gallbladder Disease ◽  
Hypoxia Inducible Factor ◽  
Somatic Mosaicism ◽  
Clinical Aspects ◽  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

Endocarditis

2015 ◽  
pp. 230-244
Author(s):  
Gilbert Habib ◽  
Franck Thuny
Keyword(s):  
Infective Endocarditis ◽  
Imaging Techniques ◽  
Prosthetic Valve Endocarditis ◽  
Transoesophageal Echocardiography ◽  
Pet Ct ◽  
Long Term Prognosis ◽  
Severity Of The Disease ◽  
Fdg Pet Ct

Imaging plays a key role in the assessment of infective endocarditis. Echocardiography, particularly transoesophageal echocardiography, gives useful information concerning the diagnosis of infective endocarditis, the assessment of the severity of the disease, the prediction of short-term and long-term prognosis, and the follow-up of patients under specific antibiotic therapy. Other imaging techniques, including magnetic resonance imaging, Computed tomography (CT) scan, and invasive angiography, are of limited value for the diagnosis of infective endocarditis, but are useful for the diagnosis and management of its complications. FDG PET/CT imaging seems the most promising new imaging technique, particularly for the diagnosis of prosthetic valve endocarditis

STEREOTACTIC RADIOSURGICAL TREATMENT OF CRANIAL AND SPINAL HEMANGIOBLASTOMAS

Neurosurgery ◽  
2009 ◽  
Vol 65 (1) ◽  
pp. 79-85 ◽  
Author(s):  
Jason M. Moss ◽  
Clara Y.H. Choi ◽  
John R. Adler ◽  
Scott G. Soltys ◽  
Iris C. Gibbs ◽  
...  
Keyword(s):  
Stereotactic Radiosurgery ◽  
Treatment Effectiveness ◽  
Attractive Alternative ◽  
Von Hippel Lindau ◽  
Spinal Lesions ◽  
Large Patient ◽  
Von Hippel Lindau Disease ◽  
The Mean

ABSTRACT OBJECTIVE Stereotactic radiosurgery has been used for nearly 2 decades to treat hemangioblastomas, particularly those that are in surgically inaccessible locations or that are multiple, as is common in von Hippel-Lindau disease. There is a paucity of long-term published radiosurgical treatment outcomes, particularly for spinal lesions, in a large patient population. The purpose of this study was to provide a long-term retrospective evaluation of radiosurgical hemangioblastoma treatment effectiveness, with a special emphasis on the relatively recent use of frameless, image-guided radiosurgery in the treatment of spinal lesions. METHODS From 1991 to 2007, 92 hemangioblastomas in 31 patients, 26 with von Hippel-Lindau disease, were treated with radiosurgery (27 tumors treated with frame-based linear accelerator radiosurgery, and 67 tumors were treated with CyberKnife radiosurgery). The mean patient age was 41 years (range, 18–81 years). The radiation dose to the tumor periphery averaged 23.4 Gy (range, 12–40 Gy). The mean tumor volume was 1.8 cm3 (range, 0.058–65.4 cm3). Tumor response was evaluated in serial, contrast-enhanced, computed tomographic, and magnetic resonance imaging scans. RESULTS Clinical and radiographic follow-up data were available for 82 hemangioblastoma tumors. Only 13 (16%) of the treated hemangioblastomas progressed, whereas 18 tumors (22%) showed radiographic regression, and 51 tumors (62%) remained unchanged in size. With median follow-up of 69 months (range, 5–164 months), the actuarial local control rates at 36 and 60 months were 85% and 82%, respectively. Radiosurgery improved lesion-associated symptoms in 36 of 41 tumors. During the follow-up period, 9 patients died of causes unrelated to the progression of their treated hemangioblastomas, and 5 patients developed radiation necrosis. CONCLUSION Stereotactic radiosurgery is safe and effective in the treatment of hemangioblastomas and is an attractive alternative to surgery for patients, including those with von Hippel-Lindau disease.

scholarly journals Long-Term Prognosis of Haemangioblastoma of the CNS: Impact of von Hippel-Lindau Disease

1999 ◽  
Vol 141 (11) ◽  
pp. 1147-1156 ◽  
Author(s):  
M. Niemelä ◽  
S. Lemeta ◽  
P. Summanen ◽  
T. Böhling ◽  
M. Sainio ◽  
...  
Keyword(s):  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Long-term Prognosis of Resected Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease Is Favorable and Not Influenced by Small Tumors Left in Place

2015 ◽  
Vol 262 (2) ◽  
pp. 384-388 ◽  
Author(s):  
Louis de Mestier ◽  
Sébastien Gaujoux ◽  
Jérôme Cros ◽  
Olivia Hentic ◽  
Marie-Pierre Vullierme ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Pancreatic Neuroendocrine Tumors ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

scholarly journals Thermal Ablation of Small Renal Tumors – Present Status

2007 ◽  
Vol 7 ◽  
pp. 756-767 ◽  
Author(s):  
Jon A. J. Lovisolo ◽  
Claudio P. Legramandi ◽  
Aldo Fonte
Keyword(s):  
Radiofrequency Ablation ◽  
Thermal Ablation ◽  
Case Series ◽  
Renal Tumors ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Prospective Trials

Thermal ablation of renal tumors is achieved by the delivery of extreme heat or extreme cold directly to the lesion in order to obtain in situ destruction of the malignant cells without having to remove the entire organ. Cryotherapy and radiofrequency ablation are becoming more and more attractive for the treatment of small lesions in select cases. Other types of energy such as microwave, laser and high intensity ultrasound have also been used to destroy kidney lesions but must still be considered in the experimental stage. Cryotherapy and radiofrequency ablation are minimally invasive and have been shown to be safe and effective in treating tumors up to 3–4 cm in diameter. However, the number of case series is rather limited and follow-up, especially for radiofrequency ablation, is short. Only now are workers beginning to present outcomes after 5 years for cryoablation. Therefore, the long-term oncological efficacy of these ablation techniques remains to be seen. As longer follow-up and greater patient numbers are reported we will get a clearer picture of the true potential of these modalities. Randomized prospective trials would be auspicable. For now, CA and RFA should be limited to few select patients i.e. patients with comorbidities which render them at high risk for a surgical procedure and possibly patients with genetic conditions such as Von Hippel Lindau disease who will probably develop multiple tumors.

A Rational Approach to Radiological Screening in Von Hippel-Lindau Disease

1994 ◽  
Vol 1 (2) ◽  
pp. 88-95 ◽  
Author(s):  
R W J Harries
Keyword(s):  
Posterior Fossa ◽  
Rational Approach ◽  
Pedigree Data ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Live Births ◽  
Von Hippel Lindau Disease ◽  
High Degree

Objectives— To optimise radiological screening in von Hippel-Lindau disease (VHL) while minimising cost and morbidity. Methods— A model of VHL was based on retrospective studies, and Bayes's theorem used to calculate the probability of the gene's presence and the likelihood of further lesions in affected families. A six year follow up was conducted to test the validity of the model. Results— Follow up confirmed the accuracy and validity of the model. Posterior fossa haemangioblastomas occur in 79·2% of VHL cases, supratentorial, retinal and spinal haemangioblastomas in 6·9%, 42·8%, and 22·0%, phaeochromocytomas in 5·2%, and renal carcinomas in 14·5%. Population incidences are 1:15 700 live births (posterior fossa), 1:780 000 (supratentorial), and 1:116 000 (spinal). The birth rate of subjects with VHL is 1:43 000; new mutations occur in 1:178 000 live births. Penetrance is 90%; 40% present with multiple lesions and 6·4% die within two years after diagnosis. Conclusions— For most patients presenting with a VHL-type lesion, with sufficient clinical and pedigree data, the presence or absence of the VHL gene, and the probability of further lesions occurring, can be assessed with a high degree of accuracy using the method described in this paper. Those cases in the non-VHL group do not require long term radiological follow up, nor do their relatives require radiological screening. Subjects in the VHL group should be screened for renal carcinoma indefinitely from the age of 20 years, and all clinically unaffected relatives should be screened genetically for the VHL gene. (Those found negative for the gene do not require further screening, but those found positive should be screened.)

scholarly journals A long-term survivor of metachronous liver metastases of pancreatic serous cystic neoplasm associated with von Hippel–Lindau disease

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Takashi Kokumai ◽  
Masamichi Mizuma ◽  
Katsuya Hirose ◽  
Hideaki Karasawa ◽  
Masaharu Ishida ◽  
...  
Keyword(s):  
Liver Metastases ◽  
Surgical Resection ◽  
Cystic Neoplasm ◽  
Von Hippel Lindau ◽  
Initial Surgery ◽  
Contrast Enhanced ◽  
Serous Cystic Neoplasm ◽  
Von Hippel Lindau Disease

Abstract Background Pancreatic serous cystic neoplasm (SCN) is an uncommon exocrine neoplasm, which is believed to be a benign entity. However, some of these neoplasms may occasionally attain metastatic ability. Von Hippel–Lindau disease (VHL) manifests a dominantly inherited systemic syndrome accompanied by several benign or malignant tumors, including cystic tumors, in various organs. We describe here a long-term survival case who underwent surgical resection for metachronous liver metastases of pancreatic SCN associated with VHL disease. Case presentation A 35-year-old woman with VHL underwent total pancreatectomy and right nephrectomy for pancreatic SCN and renal cell carcinoma, respectively. At the 4th year follow-up examination after the resection, contrast-enhanced computed tomography (CT) and gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed arterially hyper-enhanced neoplastic lesions in the segment VI and VIII of the liver. Partial resections of the liver were performed 53 months after the initial surgery. At the 6th month follow-up examination from the second surgery, one and two tumors located in the liver segment III, and VIII, respectively, were detected by contrast-enhanced CT and Gd-EOB-DTPA-enhanced MRI. Anterior segmentectomy and partial resection of the segment III were performed 66 months after the initial surgery and 13 months after the second, respectively. The tumors were pathologically diagnosed as liver metastases of pancreatic SCN synonymous with serous cystadenocarcinoma. She remains disease-free without recurrence 6.5 years after the last operation. Conclusions This is the first report of a case of metastatic SCN associated with VHL. Surgical resection might confer a favorable prognosis in patients of pancreatic SCN with liver metastases.

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